Article
UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration.
Annals of neurology - 1 May 2014
Fahed Akl C, McDonough Barbara, Gouvion Cynthia M, Newell Kathy L, Dure Leon S, Bebin Martina, Bick Alexander G, Seidman J G, Harter Donald H, Seidman Christine E
Abstract excerpt
We report a 5-generation family with phenotypically diverse neurodegenerative disease including relentlessly progressive choreoathetoid movements, dysarthria, dysphagia, spastic paralysis, and behavioral dementia in descendants of a 67-year-old woman with amyotrophic lateral sclerosis. Disease onset varied with gender, occurring in male children and adult women. Exome sequence analyses revealed a novel mutation...
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